| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | FANCA, LOC130059837 +1 more | Copy number loss | Fanconi anemia complementation group A | |
| | FANCA, LOC130059837 (Q869P) | Single nucleotide variant (missense variant) | Fanconi anemia complementation group A +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Fanconi anemia complementation group A | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene